Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3658499011 | Otulipenia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3658500019 | OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3658501015 | OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3658502010 | OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3658503017 | OTULIN-related autoinflammatory syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3658504011 | Infantile-onset periodic fever, panniculitis, dermatosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3658516017 | Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhoea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3658517014 | Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | morphologie associée (attribut) | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | est un(e) (attribut) | Hereditary periodic fever (disorder) | true | Inferred relationship | Some | ||
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | évolution clinique (attribut) | récurrent | true | Inferred relationship | Some | 3 | |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | interprète (attribut) | Body temperature (observable entity) | true | Inferred relationship | Some | 2 | |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 2 | |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | localisation d'une constatation (attribut) | structure du système immunitaire | true | Inferred relationship | Some | 1 | |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | est un(e) (attribut) | Congenital disease | false | Inferred relationship | Some | ||
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | morphologie associée (attribut) | inflammation | false | Inferred relationship | Some | 1 | |
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | est un(e) (attribut) | Inflammatory disorder of immune system | false | Inferred relationship | Some | ||
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | est un(e) (attribut) | Hereditary disorder by system | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets